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Article

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.

European journal of human genetics : EJHG - 1 Jun 2012

van der Walt Elizna M, Smuts Izelle, Taylor Robert W, Elson Joanna L, Turnbull Douglass M, Louw Roan, van der Westhuizen Francois H

Abstract excerpt

Mitochondrial disease can be attributed to both mitochondrial and nuclear gene mutations. It has a heterogeneous clinical and biochemical profile, which is compounded by the diversity of the genetic background. Disease-based epidemiological information has expanded significantly in recent decades, but little information is known that clarifies the aetiology in African patients. The aim of this study was to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22258525
DOI: 10.1038/ejhg.2011.262
PMCID: PMC3355259

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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